MEDICINE PAPERS, 2015, 1 (1–4): 9–12

Sprengel deformity: a rare congenital anomaly of thescapula

VITO PAVONE1 & ANDREA D. PRATICÒ2,3

1Section of Orthopedics, Department of Surgical Sciences,University of Catania, Italy2Section of Pediatrics and Child Neuropsychiatry, Depar-tment of Clinical and Experimental Medicine, University ofCatania, Italy3Department of Clinical and Molecular Biomedicine, Uni-versity of Catania, Italy

SUMMARYThe authors report a case of a typical Sprengel deform-ity, a rare morphological anomaly which affects one orboth scapula. The anomaly is more frequently a sporadicoccurrence, but there are well-documented familial caseswhere inheritance has been reported.

which appears located in a higher position andangles down towards the spine (Warkany, 1972). Theanomaly is also known as scapula alata, undescen-ded scapula, or scapula elevata, but the name“Sprengel deformity” is the most common.

The first report of the anomaly of the scapula iscredited to Eulenburg (1863), who reported a singlecase. Twenty years later, Willet & Walsham (1883)reported an anatomical description of two patients,and Sprengel (1891) described a clinical report offour patients with this anomaly, which was laternamed after him.

The anomaly is rarely inherited and is morefrequently a sporadic occurrence, but there are well-documented familial cases where a dominant patternof inheritance has been reported (Wilson et al.,1997).

We report here a girl with a typical Sprengel de-formity affecting the right scapula. The girl has beenfollowed up for three years.

CASE REPORT

The seven year old girl came to the Departmentof Orthopedics at the University Hospital “VittorioEmanuele” in Catania, Italy, for a clinical work-upregarding her shoulder anomaly. She was born aftera normal pregnancy and delivery. The parents arehealthy and do not show clinical malformations; inparticular, the location and symmetry of their scapulaare normal.

The girl was born at term with a birth weight of3,100 grams. Her height was 50 cm and her headcircumference was 35 cm (all within normal limits).

The scapular anomaly was present since birth,but was initially unnoticed and only in the sub-sequent months was correct consideration to thisanomaly given. Psychomotor developmental wasnormal. She attended the school with good perform-ance. At physical examination, her weight was 18 kgand height 110 cm (within the third percentile). Theneck was short. The right scapula was higher than

KEYWORDS

Orthopedics; Sprengel deformity; morphological an-omalies; scapula.

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CORRESPONDING AUTHORVito Pavone, email: vitopavone@hotmail.com

INTRODUCTION

Morphological anomalies of the scapula havebeen underrated in the literature due to the low in-cidence of this condition.

The most striking anomaly of the scapula isSprengel deformity, which affects one or both scap-ula. Typically, the anomaly affects a single scapula,

Received 18.10.2015; accepted 11.11.2015; printed30.11.2015

the left and was located within the superior border,just below the right clavicle. The right scapula wasalso shorter than the left, and sloped down at a lowerangle that turns toward the spine (Figs. 1–3). Sheshowed a mild cervico-thoracic scoliosis. The glen-oid cavity is downward facing. No other malformationanomalies were seen. Examination of the chest andheart were normal, as were the genital organs. Neur-ological examination showed normal plantar re-flexes, as well as good motor and language devel-opment. Right shoulder abduction was limited to lessthan 90°, with lack of motion of the scapula-thoracicjunction and an inferiorly rotated glenoid.

Routine laboratory analysis was performed, in-cluding blood count, glucose, ketones, creatin-phos-phokinases, and copper and thyroid markers.Audiometric examination, electro-cardiogram, andechocardiogram were all normal, as was a video-EEG conducted while asleep and awake. Skeletal X-rays showed the presence of a hypoplastic rightscapula and scoliosis.

Surgical treatment was suggested,as the an-omaly was moderate-severe, but the parents re-fused. Physical therapy was then carried out. Wehave followed the girl for three years, and haveobserved no clear modification of the scapular an-omaly or of the scoliosis.

DISCUSSION

The present patient shows a typical Sprengel de-formity affecting the right scapula, which appears hy-poplastic with reduced vertical length. The rightscapula is superiorly placed when compared to itscounterpart, and is medially rotated on the posteriorthorax.

Sprengel deformity is a congenital, embryologicanomaly involving the development of the scapulaand the surrounding structures of the upper ex-tremity. The embryonic progenitor of the scapula ap-pears during the fifth week of embryogenesis, andacquires its final morphology by the end of the eightweek. The anomaly results from failure of the mes-enchimal cells of the scapula to move from the cer-vical position to the normal thoracic location (Fealyet al., 2000). In this situation, descent does not hap-pen, and the scapula tends to maintain the sameshape as in the fetal form (i.e., longer in the trans-verse diameter than in the vertical). Clinically, themost evident presenting sign is an elevated scapula,which is also smaller, distorted, and with hypoplasiaof the surrounding musculature. The anomaly israrely limited to the scapula and the surroundingmuscles: the nearest district may be shorter and the

ribs deformed. The chest is frequently narrowand cylindroid (Fig. 3). The inferior section of thetrapezius muscle is frankly hypoplastic, and themuscle hypoplasia may involve the Latissimus dorsimuscle and the rhomboids (Warkany, 1972). Klippel-Feil syndrome, Poland anomaly, Moebius syndrome,and diastematomyelia are some of the developmentaldefects that may be linked to Sprengel deformity inthe anomalous embryonic development. In general,scoliosis is the most reported associated abnormality;in two large series of 112 and 77 patients, it waspresent in 35% and 55% of patients, respectively(Cavendish, 1972; Ross & Cruess, 1977). Other an-omalies frequently associated with Sprengel de-formity include Klippel-Feil syndrome (17–27%), ribanomalies (16-48%), omovertebral bone defects (20–50%), spina bifida (20–28%), and less frequently,clavicular abnormalities (1–16%), humeral shortening(6–13%), torticollis (4%), talipes equinovarus (1-3%),congenital dislocation of the hip (1–4%), pes planus(1–3%), femoral shortening (1%), and other condi-tions (1–3%) (Jeannapoulos, 1952; Cavendish, 1972;Ross & Cruess, 1977; Harvey et al., 2012).

The treatment of Sprengel deformity attempts tosolve two main problems linked with this condition:cosmetic and functional impairments. The cosmeticabnormality is represented by the shape of the scap-ula, which is elevated and malrotated. The functionalshoulder problem results in movement limitations,most notably reduced range of motor in shoulderabduction. Some classification systems have beenproposed in an attempt to measure the differentdegree and severity of Sprengel deformity, with theaim of evaluating the effectiveness of surgical treat-ment and outcomes.

The Cavendish classification (Cavendish, 1972)is based on the degree of scapular elevation, whichis separated into four grades. According to this clas-sification, grade 1 (very mild) asymmetry cannot beobserved if the patient is dressed; grade 2 (mild)refers to a shoulder that is almost in the correctposition and deformity is visible as lump in the webof the neck, even when the patient is dressed; ingrade 3 (moderate), the deformity has a shoulderelevation of 2–5 cm and can be easily seen; grade 4(severe) refers to a shoulder that is markedly elev-ated,and the superior angle of the scapular lies atthe level of the occiput (Cavendish, 1972).

Ross & Cruess (1977) suggested an evaluationsystem that measures the degree of shoulder eleva-tion in relation to the top of the centre of the humeralhead in relation to the trunk vertical axis. Radiographicclassification has also been proposed by Rigault et al.(1976), which would distinguish between three gradesof deformity on the basis of the projection of the

VITO PAVONE & ANDREA D. PRATICÒ

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supero-medial angles of the scapula. In addition, agreat contribution came from the Magnetic Reson-ance Imaging with three dimension reconstruction,in order to diagnose concomitant abnormalities toreveal the anomaly in detail and thus create a betterplan for treatment (Cavendish, 1972; Harvey et al.,2012).

The treatment of Sprengel deformity may be sur-gical or non-surgical, depending on the severity ofthe anomaly (Harvey et al., 2012). Non-surgical treat-ment is advised for children with little cosmetic de-formity and mild abnormal motion, where physicaltherapy can allow the patient to achieve a goodrange of shoulder motion and prevent torticollis.Many surgical techniques have been developed totreat severe cases, and are generally divided intothree categories (Rigault et al., 1976): 1) capsulec-tomy or scapulotomy, 2) scapula translation by repla-cing the insertion of the shoulder girdle muscles onthe scapula, and 3) replacement of the shouldergirdle muscle from its origin to the vertebrae.

Surgical procedures have been proposed byGreen, Leibovic (modified Green technique), andWoodward (Rigault et al., 1976; Harvey et al., 2012;Walstra et al., 2013; Barth et al., 2014). The latter isthe most widely used procedure, and consists of therelease and relocation of the origin of the muscleattached to the medial border of the scapula as wellas the resection of any omovertebral bone. This tech-nique may be associated with clavicular osteotomy.Recently, the Woodward procedure has been modi-fied to ease the positioning of the glenoid cavity.Other surgical techniques are indicated in the mostsevere cases. They consist in splitting the lower por-tion of the trapezius muscle or the fibrous bandswhen present and extend/resect bone and muscle,with the aim of improved mobility. In the present pa-tient, surgical treatment was not performed due toparent refusal, but it would have been useful, sincethe anomaly presented by the patient measures asa grade three under the Cavendish scoring system.

Finally, we want to emphasize that no clear modi-fication of the clinical features (i.e., both cosmeticand functional) have been observed in three yearsof follow-up.

REFERENCES

Barth J., Bindoudi A., Kariki E.P., Vasiliadis K. &Tsitouridis I., 2014. The rare Sprengel deformity: ourexperience with three cases. Journal of ClinicalImaging Science, 4: 55.

Sprengel deformity: a rare congenital anomaly of the scapula

Figure 1. The girl, age 7, shows a right scapular Sprengeldeformity; the scapula is just under the right clavicle.

Figure 2. The girl, age 7, shows cervico-thoracic scoliosis.Figure 3. The girl, age 7, shows a profound cavity under the

clavicle in the anterior part of the trunk.

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Cavendish M.E., 1972. Congenital elevation of the scap-ula. Journal of Bone & Joint Surgery, 54: 395–408.

Eulenburg M., 1863. Beitragzur Dislocation der Scapula.Amtlicher Bericht Über die Versammlung deutscherNaturforscher und Ärzte, 37: 291–294

Fealy S., Rodeo S.A., Dicarlo E.F. & O'Brien S.J., 2000.The developmental anatomy of the neonatal gleno-humeral joint. Journal of Shoulder and Elbow Sur-gery, 9: 217–222.

Harvey E.J, Bernstein M., Desy N.M., Saran N. &Ouellet J.A., 2012. Sprengel deformity: pathogenesisand management. Journal of the American Academyof Orthopaedic Surgeons, 20: 177–186.

Jeannapoulos C.L., 1952. Congenital elevation of thescapula. Journal of Bone & Joint Surgery, 34 A(4):883–892.

Rigault P., Pouliquen J.C., Guyonvarch G. & Zujovic J.,1976. Congenital elevation of the scapula in children.Anatomo-pathological and therapeutic study aproposof 27 cases. Revue de chirurgie orthopedique etreparatrice de l'appareil moteur, 62: 5–26.

Ross D.M. & Cruess R.L., 1977. The surgical correctionof congenital elevation of the scapula. A review of

seventy-seven cases. Clinical Orthopaedics andRelated Research, 125: 17–23.

Sprengel O.G., 1891. Die angeborne Verschiebung desSchulterblattesnachoben. Archiv für Klinische Chirur-gie, 42: 545–549.

Walstra F.E., Alta T.D., van der Eijken J.W., Willems W.J.& Ham S.J., 2013. Long-term follow-up of Spren-gel's deformity treated with the Woodward procedure.Journal of Shoulder and Elbow Surgery, 22: 752–759.

Warkany J., 1972. Congenital malformations through theages. Advances in Experimental Medicine and Bio-logy, 27: 7–15.

Willett A. & Walsham W.J., 1883. A Second Case ofMalformation of the Left Shoulder-Girdle; removalof the abnormal portion of bone; with remarks on theprobable nature of the deformity. Medico-ChirurgicalTransactions, 66: 145–158.

Wilson M.G., Mikity V.G. & Shinno N.W., 1997. Dom-inant inheritance of Sprengel's deformity. Journal ofPediatrics, 79: 818–821.

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VITO PAVONE & ANDREA D. PRATICÒ